Canonical Allele Identifier: PA645510799
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440588
ClinVar RCV Id: RCV000508690
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg215His
CA044194
NM_000527.5:c.644G>A